Fujii, 1994: Overview of all reported PxMD-PDHA1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
♀
n.a.
n.a.
n.a.
21
Yes
Dysarthria
-Gait ataxia (interictal)
Gait ataxia
Ataxia
Cognitive impairment
Cognitive impairment (interictal)
Ataxia (interictal)
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n.a.